{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T17:40:37Z","timestamp":1783359637930,"version":"3.54.6"},"reference-count":49,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T00:00:00Z","timestamp":1630368000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) caused by an inherited gene defect. MPS patients can remain undetected unless the initial signs or symptoms have been identified. Newborn screening (NBS) programs for MPSs have been implemented in Taiwan since 2015, and more than 48.5% of confirmed cases of MPS have since been referred from these NBS programs. The purpose of this study was to report the current status of NBS for MPSs in Taiwan and update the gold standard criteria required to make a confirmative diagnosis of MPS, which requires the presence of the following three laboratory findings: (1) elevation of individual urinary glycosaminoglycan (GAG)-derived disaccharides detected by MS\/MS-based assay; (2) deficient activity of a particular leukocyte enzyme by fluorometric assay; and (3) verification of heterogeneous or homogeneous variants by Sanger sequencing or next generation sequencing. Up to 30 April 2021, 599,962 newborn babies have been screened through the NBS programs for MPS type I, II, VI, and IVA, and a total of 255 infants have been referred to MacKay Memorial Hospital for a confirmatory diagnosis. Of these infants, four cases were confirmed to have MPS I, nine cases MPS II, and three cases MPS IVA, with prevalence rates of 0.67, 2.92, and 4.13 per 100,000 live births, respectively. Intensive long-term regular physical and laboratory examinations for asymptomatic infants with confirmed MPS or with highly suspected MPS can enhance the ability to administer ERT in a timely fashion.<\/jats:p>","DOI":"10.3390\/diagnostics11091583","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T08:42:32Z","timestamp":1630399352000},"page":"1583","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the \u201cGold Standard\u201d Criteria Required to Make a Confirmatory Diagnosis"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-2092","authenticated-orcid":false,"given":"Chih-Kuang","family":"Chuang","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"College of Medicine, Fu-Jen Catholic University, Taipei 24205, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung-Lin","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru-Yi","family":"Tu","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Ting","family":"Lo","sequence":"additional","affiliation":[{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran","family":"Sisca","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Hui","family":"Chang","sequence":"additional","affiliation":[{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Ying","family":"Liu","sequence":"additional","affiliation":[{"name":"The Chinese Foundation of Health, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsin-Yun","family":"Liu","sequence":"additional","affiliation":[{"name":"The Chinese Foundation of Health, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiao-Jan","family":"Chen","sequence":"additional","affiliation":[{"name":"The Chinese Foundation of Health, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Min","family":"Kao","sequence":"additional","affiliation":[{"name":"The Chinese Foundation of Health, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Yun","family":"Wang","sequence":"additional","affiliation":[{"name":"Taipei Institute of Pathology, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huey-Jane","family":"Ho","sequence":"additional","affiliation":[{"name":"Taipei Institute of Pathology, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9619-0990","authenticated-orcid":false,"given":"Hsiang-Yu","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Early Childhood Care and Education, Mackay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40402, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Early Childhood Care and Education, Mackay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan"},{"name":"Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 11219, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,31]]},"reference":[{"key":"ref_1","unstructured":"Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D. (1995). The Mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, Inc. Health Profession Division."},{"key":"ref_2","unstructured":"Applegarth, D.A., Dimmick, J.E., and Hall, J.G. (1997). Organelle Diseases: Clinical features, diagnosis, pathogenesis and management. Chapman. Hall Med., 45\u201397."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/S0957-5839(97)80195-9","article-title":"Lysosomal Disorders","volume":"7","author":"Besley","year":"1997","journal-title":"Curr. Paediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0957-5839(96)80065-0","article-title":"Mucopolysaccharidoses","volume":"6","author":"Wraith","year":"1996","journal-title":"Curr. Paediatr."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1186\/s13023-020-01598-z","article-title":"Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985\u20132019)","volume":"15","author":"Lin","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s13023-018-0816-4","article-title":"Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan","volume":"13","author":"Chuang","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_7","first-page":"87","article-title":"The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry","volume":"7","author":"Mashima","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ymgme.2013.06.007","article-title":"Newborn screening and diagnosis of mucopolysaccharidoses","volume":"110","author":"Tomatsu","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Lin, H.Y., Lee, C.L., Lo, Y.T., Tu, R.Y., Chang, Y.H., Chang, C.Y., Chiu, P.C., Chang, T.M., Tsai, W.H., and Niu, D.M. (2019). An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan. Diagnostics, 9.","DOI":"10.3390\/diagnostics9040140"},{"key":"ref_10","first-page":"15","article-title":"Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and twodimensional electrophoresis","volume":"64","author":"Chuang","year":"2001","journal-title":"Chin. Med. J."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.ymgme.2010.09.003","article-title":"Efficient analysis of urinary glycosaminoglycans by LC-MS\/MS in mucopolysaccharidoses type I, II and VI","volume":"102","author":"Gagnon","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1186\/s13023-014-0135-3","article-title":"A modified liquid chromatography\/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses","volume":"9","author":"Chuang","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ymgme.2016.09.005","article-title":"Glycosaminoglycans detection methods: Applications of mass spectrometry","volume":"120","author":"Kubaski","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"10755","DOI":"10.1038\/s41598-019-46829-x","article-title":"Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis","volume":"9","author":"Lin","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/0009-8981(79)90121-9","article-title":"A fluorometric assay using 4-methylumbelliferyl \u03b1-L-iduronide for the estimation of \u03b1-L-iduronidase activity and the detection of hurler and Scheie syndromes","volume":"92","author":"Hopwood","year":"1979","journal-title":"Clin. Chim. Acta."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1023\/A:1012763026526","article-title":"A fluorimetric enzyme assay for the diagnosis of MPS II (hunter disease)","volume":"24","author":"Voznyi","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/0009-8981(90)90339-T","article-title":"A fluorimetric enzyme assay for the diagnosis of Morquiodisease type A (MPS IV A)","volume":"187","author":"Zhao","year":"1990","journal-title":"Clin. Chim. Acta"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Lin, H.Y., Tu, R.Y., Chern, S.R., Lo, Y.T., Fran, S., Wei, F.J., Huang, S.F., Tsai, S.Y., Chang, Y.H., and Lee, C.L. (2019). Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21010114"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1111\/j.1399-0004.2011.01680.x","article-title":"Mucopolysaccharidosis I mutations in Chinese patients: Identification of 27 novel mutations and 6 cases involving prenatal diagnosis","volume":"81","author":"Wang","year":"2012","journal-title":"Clin. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.cca.2014.05.010","article-title":"Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia","volume":"436","author":"Chistiakov","year":"2014","journal-title":"Clin. Chim. Acta."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1034\/j.1399-0004.2000.570207.x","article-title":"Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH\/S","volume":"57","author":"Teng","year":"2000","journal-title":"Clin. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1136\/jmg.34.11.939","article-title":"Mucopolysaccharidosis type I: Identification of novel mutations that cause Hurler\/Scheie syndrome in Chinese families","volume":"34","author":"Wang","year":"1997","journal-title":"J. Med. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"S303","DOI":"10.1007\/s10545-008-0876-z","article-title":"Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome","volume":"31","author":"Keeratichamroen","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1093\/hmg\/6.4.627","article-title":"Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome","volume":"6","author":"Lagerstedt","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.ymgme.2012.12.010","article-title":"Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings","volume":"108","author":"Tajima","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1093\/hmg\/4.3.341","article-title":"Mucopolysaccharidosis IVA: Screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene","volume":"4","author":"Ogawa","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s13023-020-1322-z","article-title":"Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns","volume":"15","author":"Chien","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<202::AID-HUMU4>3.0.CO;2-J","article-title":"Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype","volume":"11","author":"Yamada","year":"1998","journal-title":"Hum. Mutat."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1002\/humu.20257","article-title":"Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)","volume":"26","author":"Tomatsu","year":"2005","journal-title":"Hum. Mutat."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1016\/j.jmb.2012.08.020","article-title":"The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A","volume":"423","author":"Schutsky","year":"2012","journal-title":"J. Mol. Biol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/humu.9265","article-title":"Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients","volume":"24","author":"Tomatsu","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<368::AID-HUMU6>3.0.CO;2-B","article-title":"Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene","volume":"10","author":"Tomatsu","year":"1997","journal-title":"Hum. Mutat."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ymgme.2014.03.004","article-title":"Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations","volume":"112","author":"Morrone","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Cozma, C., Eichler, S., Wittmann, G., Flores Bonet, A., Kramp, G.J., Giese, A.K., and Rolfs, A. (2015). Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0131228"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/jhg.2010.65","article-title":"Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations","volume":"55","author":"Wang","year":"2010","journal-title":"J. Hum. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"e98","DOI":"10.1136\/jmg.2003.018010","article-title":"Mucopolysaccharidosis IVA: Identification of mutations and methylation study in GALNS gene","volume":"41","author":"Tomatsu","year":"2004","journal-title":"J. Med. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J","article-title":"Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome","volume":"10","author":"Bunge","year":"1997","journal-title":"Hum. Mutat."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1002\/humu.1187","article-title":"A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis","volume":"18","author":"Yang","year":"2001","journal-title":"Hum. Mutat."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.cca.2008.04.014","article-title":"Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients","volume":"394","author":"Lin","year":"2008","journal-title":"Clin. Chim. Acta"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.ymgme.2008.02.012","article-title":"Maroteaux-Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene","volume":"94","author":"Garrido","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF00212019","article-title":"Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)","volume":"93","author":"Voskoboeva","year":"1994","journal-title":"Hum. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1002\/ajmg.a.36489","article-title":"Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations","volume":"164A","author":"Kantaputra","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_43","first-page":"820","article-title":"Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation","volume":"100","author":"Yang","year":"2001","journal-title":"J. Formos. Med. Assoc."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1007\/s00431-019-03341-8","article-title":"Molecular diagnosis of patients affected by mucopolysaccharidosis: A multicenter study","volume":"178","author":"Zanetti","year":"2019","journal-title":"Eur. J. Pediatr."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1111\/ped.12281","article-title":"Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe","volume":"56","author":"Jurecka","year":"2014","journal-title":"Pediatr. Int."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.jpeds.2018.09.063","article-title":"Taiwan NationalNewborn Screening Program by Tandem Mass Spectrometry for MucopolysaccharidosesTypes I, II, and VI","volume":"205","author":"Chan","year":"2019","journal-title":"J. Pediatr."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s10545-009-9036-3","article-title":"Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I","volume":"33","author":"Tomatsu","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"727","DOI":"10.4155\/bio-2018-0306","article-title":"Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS\/MS","volume":"11","author":"Menkovic","year":"2019","journal-title":"Bioanalysis"},{"key":"ref_49","first-page":"100563","article-title":"Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS\/MS","volume":"22","author":"Stapleton","year":"2020","journal-title":"Mol. Genet. Metab. Rep."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/9\/1583\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:53:24Z","timestamp":1760165604000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/9\/1583"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,31]]},"references-count":49,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["diagnostics11091583"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics11091583","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,31]]}}}